Mutagenetix > Incidental Mutation

Incidental Mutation 'R7499:Asb6'

581352

Institutional Source

Beutler Lab

Gene Symbol

Asb6

Ensembl Gene

ENSMUSG00000039483

Gene Name

ankyrin repeat and SOCS box-containing 6

Synonyms

2510004M11Rik

MMRRC Submission

045572-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R7499 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30713109-30718312 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30714472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 213 (T213A)

Ref Sequence

ENSEMBL: ENSMUSP00000043462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041726] [ENSMUST00000041830] [ENSMUST00000127566] [ENSMUST00000128303] [ENSMUST00000129628] [ENSMUST00000129712] [ENSMUST00000138889] [ENSMUST00000152374]

AlphaFold

Q91ZU1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041726
AA Change: T213A

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000043462
Gene: ENSMUSG00000039483
AA Change: T213A

Domain	Start	End	E-Value	Type
Blast:ANK	31	63	3e-7	BLAST
ANK	66	95	1.96e3	SMART
ANK	100	129	1.91e-6	SMART
ANK	134	164	1e0	SMART
ANK	168	203	4.3e0	SMART
Blast:ANK	256	287	1e-11	BLAST
SOCS_box	370	410	1.72e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000041830

SMART Domains

Protein: ENSMUSP00000035303
Gene: ENSMUSG00000026857

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_PK	8	223	2.3e-99	PFAM
Pfam:Ubie_methyltran	36	178	2.8e-7	PFAM
Pfam:Methyltransf_2	59	190	3.6e-8	PFAM
Pfam:Methyltransf_18	61	168	1.5e-9	PFAM
Pfam:Methyltransf_25	65	161	2.4e-8	PFAM
Pfam:Methyltransf_12	66	163	5.2e-11	PFAM
Pfam:Methyltransf_11	66	165	4.3e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127566

SMART Domains

Protein: ENSMUSP00000142189
Gene: ENSMUSG00000026857

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_PK	8	118	6.7e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128303

SMART Domains

Protein: ENSMUSP00000123140
Gene: ENSMUSG00000026857

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_PK	8	78	1.8e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129628

Predicted Effect

probably benign
Transcript: ENSMUST00000129712

SMART Domains

Protein: ENSMUSP00000141222
Gene: ENSMUSG00000026857

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_PK	8	42	1.7e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138889

SMART Domains

Protein: ENSMUSP00000141905
Gene: ENSMUSG00000026857

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_PK	8	42	1.7e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143970

Predicted Effect

probably benign
Transcript: ENSMUST00000152374

SMART Domains

Protein: ENSMUSP00000116760
Gene: ENSMUSG00000026857

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_PK	8	146	8.7e-65	PFAM
Pfam:Methyltransf_11	66	146	4.7e-7	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,907,186 (GRCm39)	D180V	possibly damaging	Het
Abat	T	C	16: 8,421,618 (GRCm39)		probably null	Het
Ankfn1	G	A	11: 89,282,576 (GRCm39)	T357I	probably benign	Het
Armc3	C	T	2: 19,290,790 (GRCm39)	T423I	probably benign	Het
Atp11a	T	C	8: 12,882,575 (GRCm39)	C488R	probably benign	Het
Bag6	G	A	17: 35,363,368 (GRCm39)	R736H	probably benign	Het
Bche	G	A	3: 73,609,231 (GRCm39)	P65L	probably damaging	Het
Cela3a	T	A	4: 137,132,950 (GRCm39)	I101F	probably damaging	Het
Cep170	A	T	1: 176,602,028 (GRCm39)	D359E	probably damaging	Het
Chfr	T	C	5: 110,299,549 (GRCm39)	V314A	probably benign	Het
Clpb	T	C	7: 101,371,935 (GRCm39)	F224L	possibly damaging	Het
Coro2a	T	C	4: 46,539,188 (GRCm39)	K527R	probably benign	Het
Cpa5	A	G	6: 30,630,856 (GRCm39)	T373A	possibly damaging	Het
Ctsd	A	T	7: 141,937,149 (GRCm39)		probably null	Het
Dlx5	G	A	6: 6,878,340 (GRCm39)	S230F	possibly damaging	Het
Dlx5	A	C	6: 6,878,341 (GRCm39)	S230A	probably benign	Het
Dmc1	G	T	15: 79,486,621 (GRCm39)	S11*	probably null	Het
Dnah1	G	A	14: 31,037,079 (GRCm39)	Q256*	probably null	Het
Dnah3	A	G	7: 119,660,135 (GRCm39)	F846L	probably damaging	Het
Dnah5	A	T	15: 28,302,596 (GRCm39)	I1618F	probably damaging	Het
Emsy	A	G	7: 98,279,538 (GRCm39)	V267A	possibly damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,892,766 (GRCm39)		probably null	Het
Frem1	T	C	4: 82,924,007 (GRCm39)	I317M	probably damaging	Het
G6pc1	C	A	11: 101,267,520 (GRCm39)	Y323*	probably null	Het
Gm5114	A	G	7: 39,058,489 (GRCm39)	C377R	possibly damaging	Het
Gm7361	C	A	5: 26,466,188 (GRCm39)	H183Q	probably benign	Het
Hmbox1	A	G	14: 65,134,126 (GRCm39)	V158A	possibly damaging	Het
Hmg20a	A	G	9: 56,396,227 (GRCm39)	R340G	unknown	Het
Ifi206	T	A	1: 173,309,607 (GRCm39)	I130F		Het
Ifnb1	T	C	4: 88,440,911 (GRCm39)	N34S	probably benign	Het
Il16	T	C	7: 83,323,702 (GRCm39)	K283E	probably damaging	Het
Maf	T	C	8: 116,419,920 (GRCm39)	D374G	probably benign	Het
Mettl14	A	G	3: 123,168,503 (GRCm39)	I179T	probably benign	Het
Mpped1	G	A	15: 83,684,251 (GRCm39)	R91H	probably damaging	Het
Nop2	C	A	6: 125,121,171 (GRCm39)	P651Q	possibly damaging	Het
Or5p62	A	G	7: 107,771,007 (GRCm39)	*315Q	probably null	Het
Phkg1	G	A	5: 129,902,109 (GRCm39)	Q89*	probably null	Het
Phykpl	T	A	11: 51,482,285 (GRCm39)	V133E	probably damaging	Het
Polr3gl	A	T	3: 96,487,137 (GRCm39)	Y183N	probably benign	Het
Rab13	A	G	3: 90,132,840 (GRCm39)	T187A	probably benign	Het
Ripor2	A	G	13: 24,877,755 (GRCm39)	M252V	probably damaging	Het
Sec61a2	T	C	2: 5,882,725 (GRCm39)	N186S	probably benign	Het
Serpinb5	T	C	1: 106,800,119 (GRCm39)		probably null	Het
Serpine3	G	A	14: 62,902,476 (GRCm39)	W29*	probably null	Het
Sh2b3	T	C	5: 121,956,536 (GRCm39)	R382G	probably damaging	Het
Slc66a1	T	A	4: 139,033,823 (GRCm39)	D32V	probably damaging	Het
Slc7a5	A	G	8: 122,610,461 (GRCm39)	L451P	probably damaging	Het
Slco1a5	T	C	6: 142,208,257 (GRCm39)		probably null	Het
Tep1	G	A	14: 51,091,047 (GRCm39)	A695V	probably damaging	Het
Tnik	T	C	3: 28,684,743 (GRCm39)	V857A	possibly damaging	Het
Trdn	A	T	10: 33,072,097 (GRCm39)	M255L	probably benign	Het
Tsc22d4	G	A	5: 137,745,985 (GRCm39)	S203N	probably benign	Het
Tsfm	T	C	10: 126,858,417 (GRCm39)	E316G	possibly damaging	Het
Tvp23b	T	C	11: 62,770,289 (GRCm39)		probably benign	Het
Vgf	C	A	5: 137,061,099 (GRCm39)	D420E	probably damaging	Het
Zan	G	A	5: 137,462,618 (GRCm39)	P854S	probably benign	Het
Zfp831	T	C	2: 174,485,816 (GRCm39)	S164P	possibly damaging	Het

Other mutations in Asb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03334:Asb6	APN	2	30,714,496 (GRCm39)	missense	probably benign	0.03
IGL03367:Asb6	APN	2	30,714,691 (GRCm39)	missense	possibly damaging	0.57
R0853:Asb6	UTSW	2	30,717,042 (GRCm39)	missense	possibly damaging	0.89
R1785:Asb6	UTSW	2	30,717,088 (GRCm39)	missense	probably damaging	0.99
R1786:Asb6	UTSW	2	30,717,088 (GRCm39)	missense	probably damaging	0.99
R2376:Asb6	UTSW	2	30,714,414 (GRCm39)	missense	probably benign	0.08
R4133:Asb6	UTSW	2	30,718,247 (GRCm39)	utr 5 prime	probably benign
R4600:Asb6	UTSW	2	30,714,483 (GRCm39)	missense	probably damaging	1.00
R5945:Asb6	UTSW	2	30,718,215 (GRCm39)	utr 5 prime	probably benign
R6031:Asb6	UTSW	2	30,714,207 (GRCm39)	missense	probably benign	0.00
R6031:Asb6	UTSW	2	30,714,207 (GRCm39)	missense	probably benign	0.00
R6370:Asb6	UTSW	2	30,717,024 (GRCm39)	missense	probably damaging	1.00
R8710:Asb6	UTSW	2	30,717,072 (GRCm39)	missense	probably benign	0.10
R8769:Asb6	UTSW	2	30,718,143 (GRCm39)	missense	possibly damaging	0.50
R9360:Asb6	UTSW	2	30,714,334 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTCTTGAGGCAGATGTG -3'
(R):5'- GACAGCTTTACTTCACGCCC -3'

Sequencing Primer
(F):5'- CAGATGTGCGTGAGGGAC -3'
(R):5'- CATTGTCTGGTAAGGGCTG -3'

Posted On

2019-10-17